ch 54, 58, and 59 Flashcards

1
Q

Enlargement of the fetal cranium as a result of ventriculomegaly

A

macrocephaly

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2
Q

Most severe form of holoprosencephaly characterized by a single common ventricle and a malformed brain

A

alobar holoprosencephaly

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3
Q

Increase in size of the jugular lymphatic sacs caused by abnormal development

A

cystic hygroma

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4
Q

Neural tube defect of the spine in which the dorsal vertebrae fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect

A

spina bifida

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5
Q

Abnormal accumulation of cerebrospinal fluid within the cerebral ventricles leading to dilatation of the ventricle; compression of developing brain tissue and brain damage may result; commonly associated with additional fetal anomalies

A

ventriculomegaly

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6
Q

An abnormality or congenital malformation

A

anomaly

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7
Q

Congenital absence of the cerebral hemispheres caused by occlusion of the carotid arteries, midbrain structures are present, and fluid replaces cerebral tissue

A

hydranencephaly

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8
Q

Open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac

A

meningomyelocele

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9
Q

Ventriculomegaly in the neonate, abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in compression and, frequently, destruction of brain tissue

A

hydrocephalus

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10
Q

Form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril

A

cebocephaly

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11
Q

Closed defect of the spine without protrusion of meninges or spinal cord

A

spina bifida occulta

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12
Q

Neural tube defect characterized by lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life

A

anencephaly

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13
Q

Condition associated with anencephaly in which there is complete or partial absence of the cranial bones

A

acrania

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14
Q

Severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis

A

cyclopia

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15
Q

Open spinal defect characterized by protrusion of the spinal meninges

A

meningocele

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16
Q

Range of abnormalities resulting from abnormal cleavage of the forebrain

A

holoprosencephaly

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17
Q

Malformation of the lymphatic system that leads to single or multiloculated lymph filled cavities around the neck

A

fetal cystic hygroma

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18
Q

premature closure of cranial sutures

A

craniosynostoses

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19
Q

underdevelopment of the jaw and cheek bone and abnormal ears

A

treacher collins syndrome

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20
Q

head smaller than the body

A

microcephaly

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21
Q

cystic dilatation of the lacrimal sac at the nasocanthal angle

A

dacryocystocele

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22
Q

absent eyes

A

anophthalmia

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23
Q

small chin

A

micrognathia

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24
Q

congenital defect caused by an extra chromosome, which causes a deficiency in the forebrain

A

holoprosencephaly

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25
Q

absence of the nose

A

arrhinia

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26
Q

increased thickness in the nuchal fold area in the back of the neck associalted with trisomy 21

A

nuchal lucency

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27
Q

abnormal protrusion of the eyeball

A

exophthalmia

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28
Q

protrusion of the brain from the cranial cavity

A

cephalocele

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29
Q

enlargement of the thyroid gland

A

fetal goiter (thyromegaly)

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30
Q

hereditary disease caused by failure to oxidize an amino acid (phenylalanine) to tyrosine because of a defective enzyme, can lead to mental retardation

A

phenylketonuria (PKU)

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31
Q

eyes too far apart

A

hypertelorism

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32
Q

underdevelopment of the eyes, fingers, and mouth

A

oculodentodigital dysplasia

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33
Q

eyes too close together

A

hypotelorism

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34
Q

small eyes

A

microphthalmia

35
Q

Premature closure of the metopic suture

A

trigonocephaly

36
Q

Micrognathia and abnormal smallness of the tongue, usually with a cleft palate

A

pierre robin sequence

37
Q

eye disorder in which optic axes cannot be directed to the same object

A

strabismus

38
Q

abnormal smallness of one side of the face

A

hemifacial microsomia

39
Q

group of disorders having in common the coexistence of an omphalocele, macroglossia, and visceromegaly

A

beckwith wiedemann syndrome

40
Q

teratoma located in the oropharynx

A

epignathus

41
Q

hypertrophied tongue

A

macroglossia

42
Q

a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose

A

proboscis

43
Q

underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck

A

otocephaly

44
Q

cystic defect that arises from the primitive branchial apparatus

A

branchial cleft cyst

45
Q

solid tumor

A

teratoma

46
Q

What is the best plane to image cleft lip and pallet?

A

Modified Coronal View

47
Q

premature closure of any or all six of the cranial sutures and causes fetal cranium to become abnormally shaped .

A

craniosynostosis

48
Q

Extensive facial screening may be hindered by

A

Bone Shadowing
poor fetal position
oligohydramnios
maternal obesity

49
Q

what is the optimal gestational age for measuring the NT

A

11 weeks to 13 weeks, 6 days

50
Q

Most common neck mass

A

cystic hygroma colli (lymphatic obstruction)

51
Q

% of cystic hygromas associated w/ chromosomal anamalies

A

50%

52
Q

what does a Proboscis suggest

A

holoprosencephaly

53
Q

what is the most common malformation of the face

A

cleft lip (with or without cleft palate)

54
Q

what are the differential considerations for cystic hygroma

A
meningomyelocele
encephalocele
nuchal edema
branchial cleft cyst
cystic teratoma
hemangioma
thyroglossal duct cyst
55
Q

small chin

A

micrognathia

56
Q

What is elongated forehead in sag plane and triangular in axial plane

A

trigonocephaly

57
Q

Nasal triad is what and what should it include?

A

nostril symmetry
nasal septum integrity
continuity of the upper lip to exclude cleft lip and palate.

58
Q

Cleft lip with or w/o pallet seen more in what groups

A

native americans

59
Q

ear malformations can be found in what

A
treacher collins syndrome
goldenhars syndrome
hemifacial microsomia
roberts syndrome
collins syndrome
otocephaly
60
Q

fetal goider………

A

usually appears as a symmetrical (bilobed), solid, homogeneous mass arising from the anterior fetal neck in the region of the thyroid gland. (page 1286)

61
Q

How many facial anomalies occur in how many births

A

1 in 600 births

62
Q

Which neural tube defect is a result of lack of cerebral hemisphere and vault

A

anencephaly

63
Q

What central nervous system anomaly shows splaying in the cerebellar hemispheres

A

Dandy Walker Malformation

64
Q

Complete or absence of cranial bones is what

A

acrania (AKA exencephaly)

65
Q

Other anomalies associated with anencephaly

A
cleft lip and palate
hydronephrosis
diaphragmatic hernia
cardiac defects
omphalocele
gastrointestinal defects
talipes
66
Q

Most severe form of holoprosencephaly

A

alobar holoprosencephaly

67
Q

Absence of cavum septum pellucidum is a characteristic of what

A

holoprosencephaly

68
Q

Facial anomalies associated with holoprosencephaly

A
cyclopia
hypotelorism
absent nose
flattened nose with single nostril
proboscis
cebocephaly
ethmocephaly
facial clefts
69
Q

Characteristics that go with Arnold chiari malformation

A

associated with spina bifida in which the cerebellum and brain stem are pulled toward the spinal cord and secondary hydrocephalus develops

Characterized:

1) Chiari 1 - downward displacement of the cerebellar tonsils, without displacement of the fourth ventricle
2) Chiari 2 - Most common and greatest clinical importance because of it’s association with meningomyelocele
3) Chiari 3 - High cervical encephalomeningocele in which the medulla, fourth ventricle, and cerebellum reside

70
Q

What has posterior fossa cyst and splaying of cerebelar hemisphere

A

Dandy Walker Malformation

71
Q

Absence of cerebral hemispheres resulting in occlusion of carotid arteries

A

hydranencephaly

72
Q

What measurement is ventriculomegoly

A

> 10 mm

73
Q

What open spinal defect is characterized by protrusion of meninges and spinal cord through a defect

A

meningomyelocele

74
Q

Conditions associated with fetal hydrocephalis

A

occurs when ventriculomegaly is coupled with enlargement of the fetal head

aqueductal stenosis
arachnoid cysts
galen aneurysms

75
Q

Ventriculomegoly with a large head is what

A

hydrocephalis

76
Q

Most common open neural tube defect

A

spina bifida

77
Q

Fetal head anomaly characterized by single ventricle

A

alobar holoprosencephaly

78
Q

Vein of galen

A

rare arteriovenous malformation

vein is enlarged and will communicate with normal appearing arteries

sporadic event with male predominance

usually isolated anomaly

79
Q

Different forms of holoprosencephaly

A

alobar, most severe
semilobar, intermediate
lobar, mildest

80
Q

True or False question about microcephaly

A

microcephaly is on page 1308

81
Q

Differential considerations for anencephaly

A

microcephaly
acrania
cephalocele

82
Q

Herneation of meninges and brain through calvarium defect

A

encephalomeningocele (form of cephalocele)

83
Q

Differential considerations for dandy walker malformation

A

arachnoid cyst

cerebellar hypoplasia